RPS17 Gene

Aliases
for RPS17 gene

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
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Previous GC identifers: GC15M079008 GC15M076138 GC15M080395 GC15M080536 GC15M080608 GC15M059476

Summaries
for RPS17 gene

(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Genomic Views
for RPS17 gene

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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SwitchGear Promoter luciferase reporter plasmid: RPS17 promoter sequence

DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat RPS17

RPS17 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 15         GeneLoc Exon Structure

GeneLoc location for GC15M082821:  view genomic region     (about GC identifiers)

Proteins
for RPS17 gene

(According to ¹UniProtKB, HORDE, ²neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, Cloud-Clone Corp., eBioscience, antibodies-online, and/or GeneTex,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, Cloud-Clone Corp., eBioscience, and/or antibodies-online, Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, Cloud-Clone Corp, antibodies-online, and/or others.)
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1 PDB 3D structure from and Proteopedia for RPS17:

3J3A (3D)    

Explore the universe of human proteins at neXtProt for RPS17: NX_P08708

Explore proteomics data for RPS17 at MOPED

Post-translational modifications: 

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Domains /
Families
for RPS17 gene

(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GenesLikeMe)
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ProtoNet protein and cluster: P08708

Find genes that share domains with RPS17           About GenesLikeMe

Function
for RPS17 gene

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, Vector BioLabs and/or Addgene, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Flow cytometry from eBioscience, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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     Gene Ontology (GO): 2 molecular function terms:    About this table

genOway: Develop your customized and physiologically relevant rodent model for RPS17

miRNA Products:		miRTarBase miRNAs that target RPS17: hsa-mir-30a-5p (MIRT049945), hsa-mir-222-3p (MIRT046624), hsa-mir-320a (MIRT044696), hsa-mir-615-3p (MIRT039783), hsa-mir-30d-5p (MIRT047810), hsa-mir-16-5p (MIRT051166), hsa-mir-148a-3p (MIRT048036)
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS17

Localization
for RPS17 gene

(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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Subcellular locations from COMPARTMENTS: 

Compartment	Confidence
cytosol	5
nucleus	1

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Gene Ontology (GO): 4 cellular component terms:    About this table

Pathways & Interactions
for RPS17 gene

(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GenesLikeMe, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene, Sets of similar genes according to GenesLikeMe)
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SuperPaths for RPS17 About   (see all 6)   See pathways by source

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	SuperPath	Selected contained pathways About (see all per SuperPath)
1	CFTR translational fidelity (class I mutations)	CFTR translational fidelity (class I mutations) 0.60 Ribosome 0.54 Cytoplasmic Ribosomal Proteins 0.60
2	Influenza Viral RNA Transcription and Replication	Viral mRNA Translation 0.94 Eukaryotic Translation Initiation 0.89 Peptide chain elongation 0.94 Cap-dependent Translation Initiation 0.89 Nonsense Mediated Decay Independent of the Exon Junction Complex 0.94 Nonsense-Mediated Decay 0.89 Formation of a pool of free 40S subunits 0.94 Nonsense Mediated Decay Enhanced by the Exon Junction Complex 0.89
3	Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S	Ribosomal scanning and start codon recognition 0.91 Formation of the ternary complex, and subsequently, the 43S complex 0.91 Translation initiation complex formation 0.91 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S 0.90
4	Gene Expression	Gene Expression 0.40
5	Biosynthesis of the N-glycan precursor (dolichol lipid-linked oligosaccharide, LLO) and transfer to a nascent protein	Metabolism of proteins 0.30

1 GeneGo (Thomson Reuters) Pathway for RPS17

CFTR translational fidelity (class I mutations)

1 BioSystems Pathway for RPS17

Cytoplasmic Ribosomal Proteins

Selected Reactome Pathways for RPS17

	Peptide chain elongation
	Formation of the ternary complex, and subsequently, the 43S complex
	Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC)
	Viral mRNA Translation
	GTP hydrolysis and joining of the 60S ribosomal subunit

1 Kegg Pathway  (Kegg details for RPS17)

Ribosome

Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

Drugs & Compounds
for RPS17 gene

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, Sets of similar genes according to GenesLikeMe)
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Transcripts
for RPS17 gene

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, and/or Addgene, Primers from OriGene, and/or QIAGEN, Flow cytometry from eBioscience )
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Expression
for RPS17 gene

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GenesLikeMe, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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RPS17 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: GGCCGCGTTC

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Ovary (Reproductive System)
Primary Oocyte Primary Follicle
Gonad
Primary Oocyte Primary Follicle
Endoderm (Gastrulation Derivatives)
Endoderm-like cells
Tonsil (Hematopoietic System)

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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for RPS17

Orthologs
for RPS17 gene

(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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Paralogs
for RPS17 gene

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68,Sets of similar genes according to GenesLikeMe)
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Paralogs for RPS17 gene

RPS17L²  

2 SIMAP similar genes for RPS17 using alignment to 2 protein entries:     RS17_HUMAN (see all proteins):

RPS17L    LOC392101

Find genes that share paralogs with RPS17           About GenesLikeMe


Selected Pseudogenes.org Pseudogenes for RPS17 (see all 26)
PGOHUM00000242480 PGOHUM00000247171 PGOHUM00000237351 PGOHUM00000244323 PGOHUM00000262142

Genomic Variants
for RPS17 gene

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for RPS17 (see all 12)    About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 15 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1168408111,2	C	pathogenic1	82824835(-)	CAACAG/TGGTAG	2	R M	mis1		0	--	--	--	--
rs10437341,2,4		--	--	see VAR_034478	2		mis4		0	--	--	--	--
rs1422623041,2	--	--	82823390(+)	GTGACA/GTAACT	2	Y	syn1		0	--	--	--	--
rs1476951121,2	--	--	82825597(+)	TCAGGC/TACCTT	1	--	us2k1		0	--	--	--	--
rs1488102471,2	--	--	82822408(+)	GCAGGC/GAGATT	1	--	int1		0	--	--	--	--
rs1168408121,2	--	pathogenic1	82823348(-)	AGTAA-/GAGGTAT	2	Y G	fra1		0	--	--	--	--
rs1404537001,2	--	--	82823466(+)	ATGTGC/GATATA	1	--	int1		0	--	--	--	--
rs1470557891,2	--	--	82823632(+)	CCCCCA/CACTCG	1	--	int1		0	--	--	--	--
rs1412937301,2	--	--	82826010(+)	TTTTTG/TTTTTT	1	--	us2k1		0	--	--	--	--
rs3687419661,2	--	--	82824697(+)	GGAAGC/TGCCGG	1	--	int1		0	--	--	--	--

HapMap Linkage Disequilibrium report for RPS17 (82821158 - 82824972 bp)

Structural Variations
     Database of Genomic Variants (DGV) Selected variations for RPS17 (see all 13):    About this table    

Variant ID	Type	Subtype	PubMed ID
esv33165	CNV	Loss	17666407
nsv510669	CNV	Loss	20534489
nsv483125	CNV	Loss	15286789
nsv428309	CNV	Gain	18775914
nsv833071	CNV	Gain	17160897
nsv904446	CNV	Gain	21882294
nsv471686	CNV	Gain+Loss	15918152
esv21531	CNV	Gain+Loss	19812545
nsv9285	CNV	Gain+Loss	18304495
esv22027	CNV	Gain+Loss	19812545

Human Gene Mutation Database (HGMD): RPS17
Locus Specific Mutation Databases (LSDB): RPS17

Site Specific Mutation Identification with PCR Assays

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Disorders / Diseases
for RPS17 gene

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB, Sets of similar genes according to GenesLikeMe)
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Publications
for RPS17 gene

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
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PubMed articles for RPS17 gene, integrated from 10 sources (see all 69): (articles sorted by number of sources associating them with RPS17)

Utopia: connect your pdf to the dynamic world of online information

1. [Mapping the genes for ribosomal proteins S14 and S17 on human chromosomes using cDNA from a panel of hybrid cells]. (PubMed id 7661859)^{1, 3, 9} Filipenko M.L....Mertvetsov N.P. (Bioorg. Khim. 1995)
2. Mutations in the ribosomal protein genes in Japanese patients with Diamond-Blackfan anemia. (PubMed id 20378560)^{1, 4} Konno Y....Ito E. (Haematologica 2010)
3. Ribosomal protein L5 and L11 mutations are associated with cleft palate and abnormal thumbs in Diamond-Blackfan anemia patients. (PubMed id 19061985)^{1, 2} Gazda H.T....Beggs A.H. (Am. J. Hum. Genet. 2008)
4. Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia. (PubMed id 17647292)^{1, 2} Cmejla R.... Pospisilova D. (Hum. Mutat. 2007)
5. Analysis of the DNA sequence and duplication history of human chromosome 15. (PubMed id 16572171)^{1, 2} Zody M.C....Nusbaum C. (Nature 2006)
6. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (Nat. Genet. 2004)
7. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S.... Malek J. (Genome Res. 2004)
8. Characterization of the human small-ribosomal-subunit proteins by N- terminal and internal sequencing, and mass spectrometry. (PubMed id 8706699)^{1, 2} Vladimirov S.N.... Otto A. (Eur. J. Biochem. 1996)
9. The mapping of seven intron-containing ribosomal protein genes shows they are unlinked in the human genome. (PubMed id 1577483)^{1, 3} Feo S....Fried M. (Genomics 1992)
10. The transcriptionally active human ribosomal protein S17 gene. (PubMed id 3240863)^{1, 2} Chen I.-T. and Roufa D.J. (Gene 1988)

External Searches for RPS17 gene

Genome Databases showing RPS17 gene

Other Databases showing RPS17 gene

Specialized Databases showing RPS17 gene

Products
for RPS17 gene

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Advanced Cell Diagnostics, Animal models from genOway)
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